All terms in DOID

Label Id Description
Ullrich congenital muscular dystrophy DOID_0050558 [A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.]
autosomal recessive intellectual developmental disorder 82 DOID_0060947 [An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.]
hypoventilation SYMP_0000428 [A respiratory abnormality that is characterized by a deficient ventilation of the lungs that results in reduction in the oxygen content or increase in the carbon dioxide content of the blood or both.]
Ullrich congenital muscular dystrophy 2 DOID_0060948 [An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.]
bradypnea SYMP_0000429 [A respiratory abnormality that is characterized by abnormally slow breathing.]
Cryptorchidism HP_0000028
Abnormal testis morphology HP_0000035
3-hydroxyisobutryl-CoA hydrolase deficiency DOID_0060949 [An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.]
macrocytosis SYMP_0000426
Abnormal calvaria morphology HP_0002683
Abnormal skull morphology HP_0000929
sequence_feature SO_0000110
claudication SYMP_0000424 [A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking.]
reticulocytosis SYMP_0000425
intergenic_1kb_variant SO_0002074
intergenic_variant SO_0001628
transcript_variant SO_0001576
incomplete_transcript_3UTR_variant SO_0002076
dystonia 33 DOID_0060940 [A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22.]
incomplete_transcript_5UTR_variant SO_0002077